Varaico: Literature-Extracted Genetic Variants

Gene:KRIT1
Variant:p.S301*
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KRIT1

NM_194454.3:p.S301*

Associated Papers

Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.

Slavotinek A et al.

Npj Genomic Medicine, 2023

37872195 (PubMed )
Supplement: 41525_2023_382_MOESM1_ESM.pdf

Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.

Slavotinek A et al.

Npj Genomic Medicine, 2023

37236975 (PubMed )
Supplement: 41525_2023_353_MOESM1_ESM.pdf

Molecular diagnosis in cerebral cavernous malformations.

Mondejar R et al.

Neurologia (barcelona, Spain), 2017

Mutation prevalence of cerebral cavernous malformation genes in Spanish patients.

Mondéjar R et al.

Plos One, 2014

CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions.

Riant F et al.

Neurogenetics, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."